Congenital myasthenic syndrome with kinetic defect

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Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance

ORPHA:716772Etiological subtype

Also called CMS with kinetic defect due to reduced ion channel conductance

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal recessive
Classified as
Etiological subtype

Gene

CHRNEDisease-causing germline mutation(s)

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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